Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals

por Amorim, Mariana, Silva, Susana, Machado, Helena, Teles, Elisa Leão, Baptista, Maria João, Maia, Tiago, Nwebonyi, Ngozi, de Freitas, Cláudia
Publicado 2022

Role of RNA in Molecular Diagnosis of MADD Patients

por Nogueira, Célia, Silva, Lisbeth, Marcão, Ana, Sousa, Carmen, Fonseca, Helena, Rocha, Hugo, Campos, Teresa, Teles, Elisa Leão, Rodrigues, Esmeralda, Janeiro, Patrícia, Gaspar, Ana, Vilarinho, Laura
Publicado 2021

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

por Harmatz, Paul, Yu, Zi-Fan, Giugliani, Roberto, Schwartz, Ida Vanessa D., Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B, Kaplan, Paige, Swiedler, Stuart J., Hardy, Karen, Berger, Kenneth I., Decker, Celeste
Publicado 2010